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Patients and Families

Research Collaborators for the CRC-SCA Natural History Study

Research Collaborators

Individuals who are diagnosed with Ataxia are experts in their own disease. There are many members of the research team but individuals with Ataxia are experts by experience. Affected individuals are not research subjects but are research collaborators. It is not possible to learn new information about a disease unless the people who have those diseases are fully committed to participate in research. That allows new information to be gathered that will enable researchers to better understand the disease and develop treatments and therapies for Ataxia. 

Why Should I Participate?

One of the challenges in developing a treatment for a rare disease, such as Ataxia, is the lack of natural history studies. A natural history study collects data that shows how a specific disease progresses in individuals over time. Natural history studies are essential for developing clinical trial designs that will facilitate drug development. With funding from the National Ataxia Foundation and the Macklin Foundation,  the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA), a natural history study is occurring for SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1 Ataxia/CANVAS.

How Can I Participate?

The CRC-SCA Natural History study continues to recruit research collaborators across the country. In order to be a part of this study, please note the inclusion criteria:

  • For individuals aged 6 to 17 years old:
    • Must have symptoms and/or signs of ataxia.
    • Must have a genetic diagnosis of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1 Ataxia/CANVAS in themselves or a first-degree family member (parent or sibling).
    • Must be willing to participate in all mandatory aspects of the study.
    • Must have a parent or guardian assent to their participation as a minor.
  • For individuals aged 18 years or older:
    • Must have a genetic diagnosis of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1 Ataxia/CANVAS.
    • Must be willing to participate in all mandatory aspects of the study.
    • Must be able to give informed consent, or have assent granted by a custodian.

Previous participants in the READISCA Clinical Trial Readiness study are also eligible to join the CRC-SCA natural history study.

If interested, or if you have specific questions about eligibility please contact the site coordinator nearest you. View our map and coordinator list here. Research collaborators who are willing and able to undergo a lumbar puncture to donate cerebrospinal fluid (CSF) for research will be given a monetary stipend.

Having difficulty figuring out if you are eligible to participate? Not a problem! You can use our CRC-SCA Eligibility Screening Tool to check if you are eligible to participate in this natural history study.

What is Involved with Participation?

As a participant, you will be asked to visit a study site every year. On each visit, you will be asked to do the same assessments. This will help the researchers track your progress over time. It is important that patients who enroll in this study can commit to an annual visit.

Much like a typical doctor’s visit, you will have the opportunity to share information with the study team about your:

  • Demographic information
  • Medical history
  • Medication history
  • Experience with therapies
  • Your age at onset of ataxia symptoms

You will also participate in various assessments such as:

  • A physical exam
  • A neurological exam
  • Cognitive assessments
  • Other survey assessments
  • Scale for Assessment and Rating of Ataxia (SARA)
  • 9-hole peg test
  • Timed 25-Foot Walk.

On each visit, you will be required to give a blood sample. The blood sample will be used for DNA analysis and stored for future research. The samples will be stored by BioSEND and will be de-identified, so your personal information will not be linked to your sample. This is done to ensure your privacy.

Patients also have the option to donate cerebrospinal fluid (CSF). This is a watery liquid that flows around your brain and spinal cord. CSF samples are precious for ataxia research, since they can give researchers access to information not found in blood. CSF samples are also de-identified for participant privacy and stored by BioSEND. CSF donation is optional, yet highly recommended at each visit.  Participants can have their blood or CSF samples removed from BioSEND by sending a written request to their CRC-SCA site lead researcher.

CSF donation is only available at certain CRC-SCA study locations. Please note that you must be 18 years or older to donate CSF. There are additional health criteria required to donate CSF, please talk with your site coordinator if you are interested in learning more. 

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